Synonyms:
Hypoxanthine-guanine phosphoribosyltransferase HPRT deficiency a.k.a. Lesch-Nyhan disease
Diagnosis:
Genetics:
- X-linked
- Protein= hypoxanthine-guanine phosphoribosyltransferase HPRT
Clinical features:
Dystonia, athetosis,
Self mutilation (lip & finger biting)
Mental retardation (learning disability)
Severe gout, renal failure
Findings on investigations:
Uric acid: high